Regulation of beta-cell development

Pathway network for the Regulation of beta-cell development SuperPath

Sources:

Reactome

Pathways in the Regulation of beta-cell development SuperPath

#	Name	Source	Genes
1	Regulation of beta-cell development	Reactome	AKT1 AKT2 AKT3 CREBBP EP300 FGF10 FOXA2 FOXA3 FOXO1 GCK HES1 HNF1A HNF1B HNF4A HNF4G IAPP INS INSM1 KAT2A KAT2B MAFA MAML1 MAML2 MAML3 MAMLD1 NEUROD1 NEUROG3 NKX2-2 NKX6-1 NOTCH1 NR5A2 ONECUT1 ONECUT3 PAX6 PDX1 PKLR PTF1A RBPJ RFX6 SLC2A2 SNW1 (see all 41) (see less)
2	Regulation of gene expression in beta cells	Reactome	AKT1 AKT2 AKT3 FOXA2 FOXA3 FOXO1 GCK HNF1A HNF4A HNF4G IAPP INS MAFA NEUROD1 NKX2-2 NKX6-1 PAX6 PDX1 PKLR RFX6 SLC2A2 (see all 21) (see less)
3	Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells	Reactome	CREBBP EP300 HES1 HNF1B KAT2A KAT2B MAML1 MAML2 MAML3 MAMLD1 NEUROG3 NOTCH1 ONECUT1 ONECUT3 RBPJ SNW1 (see all 16) (see less)
4	Regulation of gene expression in early pancreatic precursor cells	Reactome	FGF10 HNF1B NKX6-1 NR5A2 ONECUT1 ONECUT3 PDX1 PTF1A (see all 8) (see less)
5	Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells	Reactome	INSM1 NEUROD1 NEUROG3 NKX2-2

Gene overlap in member pathways for Regulation of beta-cell development SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	ONECUT1	One Cut Homeobox 1	Protein Coding	3
2	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	3
3	ONECUT3	One Cut Homeobox 3	Protein Coding	3
4	NEUROD1	Neuronal Differentiation 1	Protein Coding	3
5	NKX2-2	NK2 Homeobox 2	Protein Coding	3
6	NKX6-1	NK6 Homeobox 1	Protein Coding	3
7	NEUROG3	Neurogenin 3	Protein Coding	3
8	HNF1B	HNF1 Homeobox B	Protein Coding	3
9	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
10	MAMLD1	Mastermind Like Domain Containing 1	Protein Coding	2
11	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	2
12	EP300	EP300 Lysine Acetyltransferase	Protein Coding	2
13	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
14	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
15	RFX6	Regulatory Factor X6	Protein Coding	2
16	FGF10	Fibroblast Growth Factor 10	Protein Coding	2
17	SNW1	SNW Domain Containing 1	Protein Coding	2
18	FOXO1	Forkhead Box O1	Protein Coding	2
19	NR5A2	Nuclear Receptor Subfamily 5 Group A Member 2	Protein Coding	2
20	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	2
21	GCK	Glucokinase	Protein Coding	2
22	KAT2A	Lysine Acetyltransferase 2A	Protein Coding	2
23	FOXA2	Forkhead Box A2	Protein Coding	2
24	FOXA3	Forkhead Box A3	Protein Coding	2
25	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	2
26	HNF4G	Hepatocyte Nuclear Factor 4 Gamma	Protein Coding	2
27	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	2
28	IAPP	Islet Amyloid Polypeptide	Protein Coding	2
29	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	2
30	INS	Insulin	Protein Coding	2
31	INSM1	INSM Transcriptional Repressor 1	Protein Coding	2
32	MAFA	MAF BZIP Transcription Factor A	Protein Coding	2
33	NOTCH1	Notch Receptor 1	Protein Coding	2
34	PAX6	Paired Box 6	Protein Coding	2
35	PKLR	Pyruvate Kinase L/R	Protein Coding	2
36	MAML3	Mastermind Like Transcriptional Coactivator 3	Protein Coding	2
37	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	2
38	HNF1A	HNF1 Homeobox A	Protein Coding	2
39	MAML2	Mastermind Like Transcriptional Coactivator 2	Protein Coding	2
40	KAT2B	Lysine Acetyltransferase 2B	Protein Coding	2
41	MAML1	Mastermind Like Transcriptional Coactivator 1	Protein Coding	2

Disorders associated with Regulation of beta-cell development SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Type 2 diabetes mellitus	Enrichment	AKT2, GCK, HNF1A, HNF1B, HNF4A, NEUROD1, PDX1, RBPJ, SLC2A2	11.20
2	Maturity-onset diabetes of the young	Enrichment	GCK, HNF1A, HNF1B, HNF4A, INS, NEUROD1, PDX1, PTF1A, RFX6	10.91
3	Diabetes mellitus	Enrichment	GCK, HNF1A, INS, RFX6	8.85
4	Maturity-onset diabetes of the young, type 3	Enrichment	GCK, HNF1A, HNF4A	7.89
5	Permanent neonatal diabetes mellitus	Enrichment	GCK, INS, PDX1	6.75
6	Pancreas, dorsal, agenesis of	Enrichment	PDX1, PTF1A	6.52
7	Maturity-onset diabetes of the young, type 1	Enrichment	GCK, HNF4A	5.64
8	Hyperinsulinism due to hnf1a deficiency	Enrichment	HNF1A, HNF4A	5.64
9	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	4.71
10	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	4.71
11	Chromophobe renal cell carcinoma	Enrichment	HNF1A, HNF1B	4.57
12	Adams-oliver syndrome	Enrichment	NOTCH1, RBPJ	4.56
13	Type 1 diabetes mellitus	Enrichment	HNF1A, INS	4.47
14	Rare genetic intellectual disability	Enrichment	CREBBP, EP300	3.87
15	Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency	Enrichment	NEUROG3	3.53
16	Maturity-onset diabetes of the young, type 6	Enrichment	NEUROD1	3.53
17	Pancreatic agenesis 1	Enrichment	PDX1	3.23
18	Maturity-onset diabetes of the young, type 4	Enrichment	PDX1	3.23
19	Prostate cancer, hereditary, 11	Enrichment	HNF1B	3.23
20	Pancreatic and cerebellar agenesis	Enrichment	PTF1A	3.23
21	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	3.23
22	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	3.23
23	Medullary sponge kidney	Enrichment	HNF1B	3.23
24	Renal dysplasia, bilateral	Enrichment	HNF1B	3.23
25	Unilateral multicystic dysplastic kidney	Enrichment	HNF1B	3.23
26	Renal dysplasia, unilateral	Enrichment	HNF1B	3.23
27	Interstitial lung disease specific to childhood	Enrichment	FGF10	3.23
28	Renal cell carcinoma, nonpapillary	Enrichment	HNF1A, HNF1B	3.04
29	Tubulointerstitial kidney disease, autosomal dominant 1	Enrichment	HNF1B	2.93
30	Renal cysts and diabetes syndrome	Enrichment	HNF1B	2.93
31	Congenital anomalies of kidney and urinary tract 2	Enrichment	HNF1B	2.93
32	Pulmonary hypoplasia, primary	Enrichment	FGF10	2.93
33	Kallikrein, decreased urinary activity of	Enrichment	PTF1A	2.93
34	Hyperuricemic nephropathy, familial juvenile, 3	Enrichment	HNF1B	2.93
35	Pancreatic agenesis 2	Enrichment	PTF1A	2.93
36	Hypospadias 2, x-linked	Enrichment	MAMLD1	2.93
37	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.93
38	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.93
39	Menke-hennekam syndrome	Enrichment	CREBBP	2.93
40	46,xy ovotesticular disorder of sex development	Enrichment	MAMLD1	2.93
41	Diffuse large b-cell lymphoma	Enrichment	CREBBP, FOXO1	2.83
42	Adenosine triphosphate, elevated, of erythrocytes	Enrichment	PKLR	2.81
43	Proteus syndrome	Enrichment	AKT1	2.81
44	Insulinomatosis and diabetes mellitus	Enrichment	MAFA	2.81
45	Hepatic adenomas, familial	Enrichment	HNF1A	2.81
46	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.81
47	Anemia, congenital, nonspherocytic hemolytic, 2	Enrichment	PKLR	2.81
48	Maturity-onset diabetes of the young, type 2	Enrichment	GCK	2.81
49	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Enrichment	HNF4A	2.81
50	Mitchell-riley syndrome	Enrichment	RFX6	2.81
51	Hyperinsulinemic hypoglycemia, familial, 3	Enrichment	GCK	2.81
52	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.81
53	Cowden syndrome 6	Enrichment	AKT1	2.81
54	Type 1 diabetes mellitus 20	Enrichment	HNF1A	2.81
55	Capillary hemangioma	Enrichment	AKT3	2.81
56	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	2.81
57	Gestational diabetes	Enrichment	GCK	2.81
58	Hyperinsulinism due to hnf4a deficiency	Enrichment	HNF4A	2.81
59	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.81
60	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10	2.75
61	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	HNF1B	2.75
62	Chromosome 17q12 deletion syndrome	Enrichment	HNF1B	2.75
63	Thumb deformity	Enrichment	CREBBP	2.63
64	Adams-oliver syndrome 5	Enrichment	NOTCH1	2.63
65	Adams-oliver syndrome 3	Enrichment	RBPJ	2.63
66	Menke-hennekam syndrome 2	Enrichment	EP300	2.63
67	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.63
68	Posterior hypospadias	Enrichment	MAMLD1	2.63
69	X-linked myotubular myopathy-abnormal genitalia syndrome	Enrichment	MAMLD1	2.63
70	Keratitis, hereditary	Enrichment	PAX6	2.51
71	Foveal hypoplasia 1	Enrichment	PAX6	2.51
72	Fanconi-bickel syndrome	Enrichment	SLC2A2	2.51
73	Diabetes mellitus, permanent neonatal, 1	Enrichment	GCK	2.51
74	Bone marrow failure syndrome 2	Enrichment	GCK	2.51
75	Optic nerve hypoplasia, bilateral	Enrichment	PAX6	2.51
76	Maturity-onset diabetes of the young, type 10	Enrichment	INS	2.51
77	Hyperproinsulinemia	Enrichment	INS	2.51
78	Senior-loken syndrome 7	Enrichment	AKT3	2.51
79	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	2.51
80	Bardet-biedl syndrome 16	Enrichment	AKT3	2.51
81	Hyperinsulinism	Enrichment	HNF4A	2.51
82	Ovarian cancer	Enrichment	AKT1, HNF1A, HNF1B	2.46
83	Tethered spinal cord syndrome	Enrichment	CREBBP	2.45
84	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	2.45
85	Keratoacanthoma	Enrichment	NOTCH1	2.45
86	Type 1 diabetes mellitus 2	Enrichment	INS	2.33
87	Nijmegen breakage syndrome	Enrichment	GCK	2.33
88	Gillespie syndrome	Enrichment	PAX6	2.33
89	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	Enrichment	HNF1A	2.33
90	Orofacial cleft 1	Enrichment	FGF10	2.28
91	Rubinstein-taybi syndrome 2	Enrichment	EP300	2.23
92	Breast cancer	Enrichment	AKT1, HNF1A	2.23
93	Aniridia 1	Enrichment	PAX6	2.21
94	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3	2.21
95	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3	2.21
96	Neonatal diabetes mellitus	Enrichment	INS	2.21
97	Eyelid coloboma	Enrichment	PAX6	2.21
98	Clear cell papillary renal cell carcinoma	Enrichment	HNF1A	2.21
99	Lens coloboma	Enrichment	PAX6	2.21
100	Hypertrichosis	Enrichment	CREBBP	2.15
101	Rhabdomyosarcoma 2	Enrichment	FOXO1	2.11
102	Hemimegalencephaly	Enrichment	AKT3	2.11
103	Aniridia	Enrichment	PAX6	2.11
104	Coloboma of choroid and retina	Enrichment	PAX6	2.11
105	Lung cancer susceptibility 3	Enrichment	FGF10	2.08
106	Coloboma of optic nerve	Enrichment	PAX6	2.03
107	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	GCK	2.03
108	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	PAX6	2.03
109	Anterior segment dysgenesis 5	Enrichment	PAX6	2.03
110	Clear cell renal cell carcinoma	Enrichment	HNF1A	2.03
111	Breast adenocarcinoma	Enrichment	AKT1	2.03
112	Nonsyndromic genetic hyperinsulinism	Enrichment	GCK	2.03
113	Hypoplastic left heart syndrome	Enrichment	NOTCH1	2.03
114	Charge syndrome	Enrichment	EP300	1.98
115	Megacolon	Enrichment	AKT3	1.97
116	Hemolytic anemia	Enrichment	PKLR	1.97
117	Combined pituitary hormone deficiency	Enrichment	FOXA2	1.91
118	Cowden syndrome	Enrichment	AKT1	1.86
119	Aortic valve disease 1	Enrichment	NOTCH1	1.82
120	Cat eye syndrome	Enrichment	PAX6	1.81
121	Peters-plus syndrome	Enrichment	PAX6	1.81
122	Polymicrogyria	Enrichment	AKT3	1.81
123	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1	1.79
124	Heart disease	Enrichment	CREBBP	1.79
125	Prostate cancer	Enrichment	HNF1B	1.77
126	Polydactyly, postaxial, type a1	Enrichment	EP300	1.76
127	Corpus callosum, agenesis of	Enrichment	CREBBP	1.76
128	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.76
129	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.76
130	Digeorge syndrome	Enrichment	HNF1A	1.73
131	Meningioma	Enrichment	AKT1	1.73
132	Congenital long qt syndrome	Enrichment	SLC2A2	1.73
133	Cakut	Enrichment	HNF1B	1.70
134	Microphthalmia/coloboma 12	Enrichment	PAX6	1.70
135	Coloboma of macula	Enrichment	PAX6	1.64
136	Anterior segment dysgenesis	Enrichment	PAX6	1.64
137	Polycystic liver disease	Enrichment	HNF4A	1.58
138	Autosomal dominant polycystic liver disease	Enrichment	HNF4A	1.58
139	Scoliosis	Enrichment	CREBBP	1.55
140	Colorectal cancer	Enrichment	AKT1, EP300	1.55
141	Tetralogy of fallot	Enrichment	NOTCH1	1.52
142	Macs syndrome	Enrichment	PAX6	1.52
143	Microphthalmia	Enrichment	PAX6	1.47
144	Primary ovarian insufficiency	Enrichment	NR5A2	1.46
145	Connective tissue disease	Enrichment	NOTCH1	1.43
146	Long qt syndrome 1	Enrichment	SLC2A2	1.34
147	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	NOTCH1	1.30
148	Myeloma, multiple	Enrichment	CREBBP	1.19
149	Hereditary breast carcinoma	Enrichment	AKT1	1.18
150	Hypertelorism	Enrichment	PAX6	1.11
151	Autism	Enrichment	CREBBP	1.09
152	Hereditary retinal dystrophy	Enrichment	NEUROD1	1.08
153	Fundus dystrophy	Enrichment	NEUROD1	1.08
154	Congenital nervous system abnormality	Enrichment	CREBBP	0.93
155	Nervous system disease	Enrichment	CREBBP	0.93
156	Microcephaly	Enrichment	EP300	0.87

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Regulation of beta-cell development

Pathway Network for Regulation of beta-cell development

Pathway network for the Regulation of beta-cell development SuperPath

Member Pathways for Regulation of beta-cell development

Pathways in the Regulation of beta-cell development SuperPath

Gene overlap in member pathways for Regulation of beta-cell development SuperPath

Associated Genes for Regulation of beta-cell development

Associated Disorders for Regulation of beta-cell development

Disorders associated with Regulation of beta-cell development SuperPath

STRING Interaction Network for Regulation of beta-cell development

Sources for Regulation of beta-cell development